Standardization and quality management in next-generation sequencing

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• 作者：Christoph Endrullat ^{christoph.endrullat@th-wildau.de" class="auth_mail" title="E-mail the corresponding author} ; Jö ; rn Glö ; kler ^{gloekler@th-wildau.de" class="auth_mail" title="E-mail the corresponding author} ; Philipp Franke ^{pfranke@th-wildau.de" class="auth_mail" title="E-mail the corresponding author} ; Marcus Frohme ; ^{marcus.frohme@th-wildau.de" class="auth_mail" title="E-mail the corresponding author}
• 关键词：ABRF ; Association of Biomolecular Resource Facilities ; BAM ; binary alignment/map ; CAP ; College of American Pathologist's ; CEN ; European Committee for Standardization ; CLIA ; Clinical Laboratory Improvement Amendments ; ddPCR ; digital droplet PCR ; ERCC ; External RNA Controls Consortium ; FDA ; Food and Drug Administration ; FFPE ; formalin-fixed ; paraffin-embedded ; FMEA ; failure mode and effects analysis ; GATK ; genome analysis toolkit ; GSC ; Genomic Standards Consortium ; HGP ; Human Genome Project ; Indel
• 刊名：Applied & Translational Genomics
• 出版年：2016
• 出版时间：September 2016
• 年：2016
• 卷：10
• 期：Complete
• 页码：2-9
• 全文大小：431 K

文摘

DNA sequencing continues to evolve quickly even after > 30 years. Many new platforms suddenly appeared and former established systems have vanished in almost the same manner. Since establishment of next-generation sequencing devices, this progress gains momentum due to the continually growing demand for higher throughput, lower costs and better quality of data. In consequence of this rapid development, standardized procedures and data formats as well as comprehensive quality management considerations are still scarce. Here, we listed and summarized current standardization efforts and quality management initiatives from companies, organizations and societies in form of published studies and ongoing projects. These comprise on the one hand quality documentation issues like technical notes, accreditation checklists and guidelines for validation of sequencing workflows. On the other hand, general standard proposals and quality metrics are developed and applied to the sequencing workflow steps with the main focus on upstream processes. Finally, certain standard developments for downstream pipeline data handling, processing and storage are discussed in brief. These standardization approaches represent a first basis for continuing work in order to prospectively implement next-generation sequencing in important areas such as clinical diagnostics, where reliable results and fast processing is crucial. Additionally, these efforts will exert a decisive influence on traceability and reproducibility of sequence data.